Gene's mutations found to cause life-threatening aortic disease

Scientists have identified the first genetic mutations that cause the aorta – the body's main artery – to widen, tear and rupture. Finding biological markers that flag aneurysm, a bulging of the aorta that leads to dissection, a lengthwise separation of tissues in the artery wall, is critically important for early diagnosis. Aneurysms can be managed initially with medication and then successfully repaired to prevent catastrophic dissection and rupture, Milewicz said. Many patients never have a chance at treatment because they go undiagnosed, even when they go to emergency rooms with severe chest pain because diagnostic tests for heart attack do not uncover aortic defects. Actor John Ritter, for example, died in September 2003 from an undiagnosed dissection that ruptured.